Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura

Tischfield, Max A.; Robson, Caroline D.; Gilette, Nicole M.; Chim, Shek Man; Sofela, Folasade A.; DeLisle, Michelle M.; Gelber, Alon; Barry, Brenda J.; MacKinnon, Sarah; Dagi, Linda R.; Nathans, Jeremy; Engle, Elizabeth C.

doi:10.1016/j.devcel.2017.07.027

Cited by 39 publications

(45 citation statements)

References 42 publications

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“…A recent study investigated development of the cerebral veins specifically. They found that TWIST1‐controlled production of BMP2 and BMP4 from the endosteal dura mater and the calvarial bone were important for the growth and remodeling of the cerebral veins (Tischfield et al, ).…”

Section: Influence Of the Meninges On Brain Developmentmentioning

confidence: 99%

Developmental biology of the meninges

Dasgupta

Jeong

2019

Genesis

106

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Summary The meninges are membranous layers surrounding the central nervous system. In the head, the meninges lie between the brain and the skull, and interact closely with both during development. The cranial meninges originate from a mesenchymal sheath on the surface of the developing brain, called primary meninx, and undergo differentiation into three layers with distinct histological characteristics: the dura mater, the arachnoid mater, and the pia mater. While genetic regulation of meningeal development is still poorly understood, mouse mutants and other models with meningeal defects have demonstrated the importance of the meninges to normal development of the calvaria and the brain. For the calvaria, the interactions with the meninges are necessary for the progression of calvarial osteogenesis during early development. In later stages, the meninges control the patterning of the skull and the fate of the sutures. For the brain, the meninges regulate diverse processes including cell survival, cell migration, generation of neurons from progenitors, and vascularization. Also, the meninges serve as a stem cell niche for the brain in the postnatal life. Given these important roles of the meninges, further investigation into the molecular mechanisms underlying meningeal development can provide novel insights into the coordinated development of the head.

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Section: Influence Of the Meninges On Brain Developmentmentioning

confidence: 99%

Developmental biology of the meninges

Dasgupta

Jeong

2019

Genesis

106

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“…The development of these tissues is affected in neurocristopathies, which can be traced to mutations in genetic determinants of NCC specification and differentiation (Etchevers et al, 2019). As an example, mutations in transcription factor TWIST1 in human are associated with craniosynostosis (Ghouzzi et al, 2000) and cerebral vasculature defects (Tischfield et al, 2017). Phenotypic analyses of Twist1 conditional knockout mouse revealed that TWIST1 is required in the NCCs for the formation of the facial skeleton, the anterior skull vault, and the patterning of the cranial nerves (Soo et al, 2002;Ota et al, 2004;Bildsoe et al, 2009;Bildsoe et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

TWIST1 and chromatin regulatory proteins interact to guide neural crest cell differentiation

Fan

Masamsetti

Sun

et al. 2020

Preprint

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Protein interaction is critical molecular regulatory activity underlining cellular functions and precise cell fate choices. Using TWIST1 BioID-proximity-labelling and network propagation analyses, we discovered and characterized a TWIST-chromatin regulatory module (TWIST1-CRM) in the neural crest cell (NCC). Combinatorial perturbation of core members of TWIST1-CRM: TWIST1, CHD7, CHD8, and WHSC1 in cell models and mouse embryos revealed that loss of the function of the regulatory module resulted in abnormal specification of NCCs and compromised craniofacial tissue patterning. Our results showed that in the course of cranial neural crest differentiation, phasic activity of TWIST1 and the interacting chromatin regulators promote the choice of NCC fate while suppressing neural stem cell fates, and subsequently enhance ectomesenchyme potential and cell motility. We have revealed the connections between TWIST1 and potential neurocristopathy factors which are functionally interdependent in NCC specification. Moreover, the NCC module participate in the genetic circuit delineating dorsal-ventral patterning of neural progenitors in the neuroepithelium.

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“…Interestingly, the inactivation of BMP2 and BMP4 using Wnt1-Cre in preosteoblasts and periosteal dura can result in defective skull and cerebral veins. BMP2/BMP4, which can be secreted from CNC or mesoderm-derived preosteoblasts and dura, can function in a paracrine manner to regulate the morphogenesis of the cerebral veins (Tischfield et al, 2017), revealing the unrecognized importance of BMP signaling in the maintenance of tissue-tissue interactions for craniofacial organ growth ( Table 1). Bone morphogenetic protein receptors are heterodimers complex composed of type I receptors and type II receptors.…”

Section: Functions Of Bmp Signaling In the Development Of Cranial Bonesmentioning

confidence: 99%

BMP Signaling in the Development and Regeneration of Cranium Bones and Maintenance of Calvarial Stem Cells

Chen

Yao

et al. 2020

Front. Cell Dev. Biol.

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The bone morphogenetic protein (BMP) signaling pathway is highly conserved across many species, and its importance for the patterning of the skeletal system has been demonstrated. A disrupted BMP signaling pathway results in severe skeletal defects. Murine calvaria has been identified to have dual-tissue lineages, namely, the cranial neural-crest cells and the paraxial mesoderm. Modulations of the BMP signaling pathway have been demonstrated to be significant in determining calvarial osteogenic potentials and ossification in vitro and in vivo. More importantly, the BMP signaling pathway plays a role in the maintenance of the homeostasis of the calvarial stem cells, indicating a potential clinic significance in calvarial bone and in expediting regeneration. Following the inherent evidence of BMP signaling in craniofacial biology, we summarize recent discoveries relating to BMP signaling in the development of calvarial structures, functions of the suture stem cells and their niche and regeneration. This review will not only provide a better understanding of BMP signaling in cranial biology, but also exhibit the molecular targets of BMP signaling that possess clinical potential for tissue regeneration.

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Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura

Cited by 39 publications

References 42 publications

Developmental biology of the meninges

Developmental biology of the meninges

TWIST1 and chromatin regulatory proteins interact to guide neural crest cell differentiation

BMP Signaling in the Development and Regeneration of Cranium Bones and Maintenance of Calvarial Stem Cells

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